Research Article

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Antineoplastic Agents; Biomarkers, Tumor; Female; Fusion Proteins, bcr-abl; Humans; Imatinib mesylate; Leukemia, Myeloid, Chronic-Phase; Leukocyte Count; male; Middle Aged; Platelet count; RNA, Messenger

In chronic myeloid leukemia (CML) two main types of messenger RNA (e14a2 and e13a2) can be produced by BCR-ABL1 gene rearrangement. Due to conflicting results, the clinical value of these transcripts remains controversial. The aim of this study was to identify associations of e14a2 and e13a2 transcripts with laboratory variables and also the response to treatment. This study included 203 adult ... more

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Atherosclerosis; Case-control studies; Female; Genotype; Heterozygote; Humans; male; Middle Aged; Mutation, Missense; Nitric Oxide Synthase Type III; Polymorphism, Single Nucleotide

Atherosclerotic and its cardiovascular complications are responsible for 17.5 million deaths a year, according to the World Health Organization. There is consensus that atherosclerosis involves multiple pathogenic processes initiated by endothelial dysfunction, with inflammation and vascular proliferation determining alterations in the matrix, with consequent formation of the atheromatous ... more

F.L. Campedelli; K.S.F.E. Silva; D.A. Rodrigues; J.V.M. Martins; I.R. Costa; M.H. Lagares; A.M. Barbosa; M.P. de Morais; K.K.V.O. Moura
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Gliomas are brain tumors that can be seriously damaging to human health. The SLC7 family is involved in amino acid or peptide transportation. The relationship between SLC7A7 polymorphisms and the development of glioma has been reported previously by a few studies. Therefore, we performed a hospital based case-control study to investigate the association of three common SNPs (rs12888930, ... more

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Atherosclerosis is a chronic inflammatory disease formed by the accumulation of lipids in the innermost layer and large-caliber artery (tunica intima). This accumulation, along with platelet factors, stimulates the proliferation of muscle cells in this region. Over than 400 genes may be related to the pathology since they regulate endothelial function, coagulation, inflammation, metabolism of ... more

J.V.M. Martins; D.A. Rodrigues; K.S.F. Silva; I.R. Costa; M.H. Lagares; F.L. Campedelli; A.M. Barbosa; M.P. Morais; K.K.V.O. Moura
12/19/2016
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Endometriosis is a common, complicated, and highly heterogeneous endocrine disease. Many genetic factors could affect the development of endometriosis. We performed a case-control study to evaluate the association between polymorphisms in CYP19A1 rs2899470, GSTM1, GSTT1, and GSTP1 rs1695 and the development of endometriosis in a Chinese population. Between March 2014 and October 2015, 262 ... more

Y. Tuo; J.Y. He; W.J. Yan; J. Yang
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Deficiencies in nutrients such as folic acid and vitamin B12 may play a role in fetal growth restriction (FGR). However, whether folic acid, vitamin B12, or homocysteine is associated with FGR in Chinese populations remains unclear. This study investigated the relationship between these nutrient deficiencies and FGR in pregnant Chinese women. We selected 116 mother and infant pairs, and ... more

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2/23/2017
Adult; Asian People; China; Female; Gene frequency; Genetic predisposition to disease; Genotype; Humans; Interleukin-10; Interleukin-6; Logistic Models; Odds Ratio; Polymerase chain reaction; Polymorphism, Restriction Fragment Length; Polymorphism, Single Nucleotide; Pre-eclampsia; Pregnancy; Promoter Regions, Genetic; Risk factors; Young Adult

Preeclampsia is a common condition unique to pregnant women. Previous studies have suggested that several cytokines may contribute to defective placental invasion and endothelial damage in this condition. We investigated the influence of four single nucleotide polymorphisms (SNPs) in the promoters of IL-6 (-572G/C, -597G/A, and -174G/C) and IL-10 (-592A/C) on susceptibility to preeclampsia in ... more

D.M. Fan; Y. Wang; X.L. Liu; A. Zhang; Q. Xu
3/08/2017
Adrenocorticotropic Hormone; Adult; Alleles; ATP Binding Cassette Transporter, Subfamily B; Gene frequency; Genotype; Healthy Volunteers; Humans; Hydrocortisone; Hypothalamo-Hypophyseal System; Japan; male; Pituitary-Adrenal System; Polymorphism, Single Nucleotide

In vitro studies have shown that multidrug resistance protein 1 (MDR1) has an affinity for cortisol; however, in vivo association studies on the relationship between MDR1 gene polymorphisms and blood cortisol levels have produced inconsistent results. Therefore, we examined the effects of the C3435T polymorphism of the MDR1 gene on blood levels of hypothalamus-pituitary-adrenal (HPA) axis ... more

A. Suzuki; Y. Matsumoto; T. Shirata; K. Goto; M. Enokido; K. Otani
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Adolescent; Adult; Brazil; Chlamydia Infections; Chlamydia trachomatis; Female; Genotype; Humans; Middle Aged; Papillomaviridae; Papillomavirus Infections; Prevalence; Trichomonas vaginalis; Trichomonas Vaginitis

Sexually transmitted infections are an important cause of morbidity among sexually active women worldwide, and have been implicated as cofactors in the pathogenesis of cervical cancer. We investigated the prevalence of human papillomavirus (HPV), Chlamydia trachomatis (CT), and Trichomonas vaginalis (TV), and accessed the diversity of HPV in women with normal and abnormal cytology in Manaus, ... more

E. Costa-Lira; A.H.V.L. Jacinto; L.M. Silva; P.F.R. Napoleão; R.A.A. Barbosa-Filho; G.J.S. Cruz; S. Astolfi-Filho; C.M. Borborema-Santos
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Adult; Frameshift mutation; Humans; Intellectual disability; male; Methyltransferases

The recent advent of exome sequencing has allowed for the identification of pathogenic gene variants responsible for a variety of diseases that were previously clinically diagnosed, with no underlying molecular etiology. Among these conditions, intellectual disability is a prevalent heterogeneous condition, presenting itself in a large spectrum of intensity, in some cases associated with ... more

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